219 related articles for article (PubMed ID: 30392167)
1. Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing.
Sparber P; Marakhonov A; Filatova A; Sharkova I; Skoblov M
Neurogenetics; 2018 Dec; 19(4):257-260. PubMed ID: 30392167
[TBL] [Abstract][Full Text] [Related]
2. Mitochondrial membrane protein-associated neurodegeneration (MPAN).
Hartig M; Prokisch H; Meitinger T; Klopstock T
Int Rev Neurobiol; 2013; 110():73-84. PubMed ID: 24209434
[TBL] [Abstract][Full Text] [Related]
3. Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia.
Sparber P; Krylova T; Repina S; Demina N; Rudenskaya G; Sharkova I; Sharkov A; Kadyshev V; Kanivets I; Korostelev S; Pomerantseva E; Kaimonov V; Mikhailova S; Zakharova E; Skoblov M
Parkinsonism Relat Disord; 2021 Mar; 84():98-104. PubMed ID: 33607528
[TBL] [Abstract][Full Text] [Related]
4. Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
Rickman OJ; Salter CG; Gunning AC; Fasham J; Voutsina N; Leslie JS; McGavin L; Cross HE; Posey JE; Akdemir ZC; Jhangiani SN; Lupski JR; Baple EL; Crosby AH
Parkinsonism Relat Disord; 2021 Jan; 82():84-86. PubMed ID: 33260061
[TBL] [Abstract][Full Text] [Related]
5. Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).
Gregory A; Lotia M; Jeong SY; Fox R; Zhen D; Sanford L; Hamada J; Jahic A; Beetz C; Freed A; Kurian MA; Cullup T; van der Weijden MCM; Nguyen V; Setthavongsack N; Garcia D; Krajbich V; Pham T; Woltjer R; George BP; Minks KQ; Paciorkowski AR; Hogarth P; Jankovic J; Hayflick SJ
Mol Genet Genomic Med; 2019 Jul; 7(7):e00736. PubMed ID: 31087512
[TBL] [Abstract][Full Text] [Related]
6. [A new form of hereditary neurodegeneration with brain iron accumulation: clinical and molecular-genetic characteristics].
Zakharova EY; Rudenskaya GE
Zh Nevrol Psikhiatr Im S S Korsakova; 2014; 114(1):4-12. PubMed ID: 24637810
[TBL] [Abstract][Full Text] [Related]
7. Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA).
Hattingen E; Handke N; Cremer K; Hoffjan S; Kukuk GM
Clin Neuroradiol; 2017 Dec; 27(4):481-483. PubMed ID: 28643035
[TBL] [Abstract][Full Text] [Related]
8. Eye of the tiger sign in a 23 year patient with mitochondrial membrane protein associated neurodegeneration.
Skowronska M; Kmiec T; Kurkowska-Jastrzębska I; Czlonkowska A
J Neurol Sci; 2015 May; 352(1-2):110-1. PubMed ID: 25819119
[No Abstract] [Full Text] [Related]
9. Mitochondrial protein associated neurodegeneration - case report.
Kłysz B; Skowrońska M; Kmieć T
Neurol Neurochir Pol; 2014; 48(1):81-4. PubMed ID: 24636776
[TBL] [Abstract][Full Text] [Related]
10. [Pedigree analysis of C19ORF12 p.Asp18Tyr mutation in a family with mitochondrial membrane protein associated neurodegeneration].
Li SJ; Wang LL; Qin LZ; Wang XJ; Zhang JW; Li W
Zhonghua Yi Xue Za Zhi; 2019 Oct; 99(37):2926-2931. PubMed ID: 31607023
[No Abstract] [Full Text] [Related]
11. Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation.
Wang ZB; Liu JY; Xu XJ; Mao XY; Zhang W; Zhou HH; Liu ZQ
Biomed Pharmacother; 2019 Oct; 118():109068. PubMed ID: 31404774
[TBL] [Abstract][Full Text] [Related]
12. Neurodegeneration with brain iron accumulation.
Hayflick SJ; Kurian MA; Hogarth P
Handb Clin Neurol; 2018; 147():293-305. PubMed ID: 29325618
[TBL] [Abstract][Full Text] [Related]
13. Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
Takano K; Shiba N; Wakui K; Yamaguchi T; Aida N; Inaba Y; Fukushima Y; Kosho T
Am J Med Genet A; 2016 Feb; 170A(2):322-328. PubMed ID: 26481852
[TBL] [Abstract][Full Text] [Related]
14. Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms.
Meyer E; Kurian MA; Hayflick SJ
Annu Rev Genomics Hum Genet; 2015; 16():257-79. PubMed ID: 25973518
[TBL] [Abstract][Full Text] [Related]
15. C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation.
Gagliardi M; Annesi G; Lesca G; Broussolle E; Iannello G; Vaiti V; Gambardella A; Quattrone A
Parkinsonism Relat Disord; 2015 Jul; 21(7):813-6. PubMed ID: 25962551
[TBL] [Abstract][Full Text] [Related]
16. Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene.
de Vries RJ; Jaeger B; Hellebrekers DMEI; Reneman L; Verhamme C; Smeets HJM; van Maarle MC; de Visser M; Bleeker FE
Clin Neurol Neurosurg; 2021 Jul; 206():106637. PubMed ID: 34022688
[TBL] [Abstract][Full Text] [Related]
17. C19orf12 mutation causing mitochondrial membrane-protein Associated Neurodegeneration masquerading as spastic paraplegia.
Ramesh R; Deenadayalu A; Bhattacharjee S; Paramanandam V
Parkinsonism Relat Disord; 2021 Aug; 89():146-147. PubMed ID: 34298215
[TBL] [Abstract][Full Text] [Related]
18. Are some C19orf12 variants monoallelic for neurological disorders?
Tariq H; Butt JUR; Houlden H; Naz S
Parkinsonism Relat Disord; 2019 Aug; 65():267-269. PubMed ID: 31105013
[No Abstract] [Full Text] [Related]
19. Novel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulation.
Lefter A; Mitrea I; Mitrea D; Plaiasu V; Bertoli-Avella A; Beetz C; Cozma L; Tulbă D; Mitu CE; Popescu BO
Neurocase; 2021 Dec; 27(6):481-483. PubMed ID: 34983316
[TBL] [Abstract][Full Text] [Related]
20. Reprogramming of a human induced pluripotent stem cell (iPSC) line from a patient with neurodegeneration with brain iron accumulation (NBIA) harboring a novel frameshift mutation in C19orf12 gene.
Lin HY; Ou-Yang CH; Lin CH
Stem Cell Res; 2020 Dec; 49():102032. PubMed ID: 33068888
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]